Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.
Saunders
G F
GF
Department of Biochemistry and Molecular Biology, University of Texas M. D. Anderson Cancer Center, Houston 77030, USA.
Chao
L Y
LY
D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution; D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D016368:Frameshift Mutation; D018398:Homeodomain Proteins; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D017354:Point Mutation; D012097:Repressor Proteins; D017384:Sequence Deletion
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D004247:DNA